NIPAL1, NIPA like domain containing 1, 152519

N. diseases: 17; N. variants: 17
Disease: RETINITIS PIGMENTOSA 49 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.100 CausalMutation disease CLINVAR Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. 25268133 2014
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.100 CausalMutation disease CLINVAR Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. 23462753 2013
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.100 CausalMutation disease CLINVAR Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. 7479749 1995